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中文人类
BBS5 - Bardet-Biedl Syndrome 5
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这个基因编码一种与巴德-毕德尔综合征直接相关的蛋白质。这种综合征的主要特征包括视网膜病变、肥胖、多指、肾异常和学习障碍。在非人类真核生物中的实验表明，这个基因在纤毛细胞中表达，并且对于纤毛的形成是必需的。已经观察到交替转录剪接变体，但尚未完全鉴定。[由RefSeq提供，2008年7月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
BBS5 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
